Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03031:Or8c16'

408424

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8c16

Ensembl Gene

ENSMUSG00000070311

Gene Name

olfactory receptor family 8 subfamily C member 16

Synonyms

Olfr894, MOR170-5, GA_x6K02T2PVTD-31898993-31899934

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL03031

Quality Score

Status

Chromosome

Chromosomal Location

38130114-38131062 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 38130361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 81 (T81P)

Ref Sequence

ENSEMBL: ENSMUSP00000091389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093866] [ENSMUST00000212992]

AlphaFold

Q9EQB2

Predicted Effect

probably damaging
Transcript: ENSMUST00000093866
AA Change: T81P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091389
Gene: ENSMUSG00000070311
AA Change: T81P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	310	8.8e-47	PFAM
Pfam:7tm_1	44	293	1.1e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212992
AA Change: T78P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,353,183 (GRCm39)	D753G	probably benign	Het
Adat2	T	C	10: 13,432,590 (GRCm39)		probably benign	Het
Ahsa2	A	G	11: 23,440,426 (GRCm39)	L275S	probably benign	Het
Arhgef38	C	T	3: 132,837,828 (GRCm39)	D118N	possibly damaging	Het
Bicra	A	T	7: 15,709,726 (GRCm39)	H1097Q	probably benign	Het
C4b	T	C	17: 34,950,104 (GRCm39)	T1389A	possibly damaging	Het
Cd180	A	G	13: 102,841,535 (GRCm39)	S194G	probably benign	Het
Chgb	C	A	2: 132,635,434 (GRCm39)	Q459K	probably benign	Het
Clvs1	G	T	4: 9,449,385 (GRCm39)		probably benign	Het
Cpox	G	A	16: 58,492,923 (GRCm39)	G186R	probably damaging	Het
Cul5	A	G	9: 53,553,975 (GRCm39)		probably benign	Het
Epsti1	G	A	14: 78,212,021 (GRCm39)	R249K	probably benign	Het
Gabrg1	A	T	5: 70,952,025 (GRCm39)	Y90*	probably null	Het
Gabrp	T	C	11: 33,504,980 (GRCm39)	R274G	probably damaging	Het
Gm6401	C	T	14: 41,788,851 (GRCm39)	E73K	possibly damaging	Het
Hectd4	C	T	5: 121,486,857 (GRCm39)	T3284M	possibly damaging	Het
Hoxc9	T	C	15: 102,892,522 (GRCm39)	M245T	probably damaging	Het
Lpar6	T	C	14: 73,476,882 (GRCm39)	V281A	possibly damaging	Het
Med18	G	T	4: 132,186,924 (GRCm39)	Q192K	possibly damaging	Het
Mis18bp1	A	G	12: 65,208,704 (GRCm39)	V3A	probably benign	Het
Mpped2	G	T	2: 106,613,968 (GRCm39)		probably benign	Het
Ms4a10	A	G	19: 10,946,035 (GRCm39)	V32A	probably benign	Het
Mthfd1l	T	A	10: 3,968,601 (GRCm39)		probably null	Het
Myh1	A	T	11: 67,097,213 (GRCm39)	Q422L	possibly damaging	Het
Myo3b	A	T	2: 70,085,721 (GRCm39)	Q819L	possibly damaging	Het
Ncoa1	G	A	12: 4,324,818 (GRCm39)	T921I	possibly damaging	Het
Or10d4b	A	G	9: 39,534,694 (GRCm39)	I92V	probably damaging	Het
Or6c214	A	G	10: 129,591,238 (GRCm39)	L27P	possibly damaging	Het
Phf3	A	G	1: 30,843,734 (GRCm39)	S1742P	probably benign	Het
Plxdc2	G	A	2: 16,655,043 (GRCm39)		probably null	Het
Poc5	A	G	13: 96,538,123 (GRCm39)	T263A	probably benign	Het
Prss41	T	A	17: 24,061,396 (GRCm39)	I132F	probably damaging	Het
Pxylp1	A	G	9: 96,707,195 (GRCm39)	I329T	probably benign	Het
Rbm27	T	C	18: 42,466,464 (GRCm39)		probably null	Het
Rnps1-ps	T	C	6: 7,982,857 (GRCm39)		noncoding transcript	Het
Rpgrip1l	A	T	8: 91,987,411 (GRCm39)	V882E	probably damaging	Het
Sec16b	T	C	1: 157,388,369 (GRCm39)	S579P	probably benign	Het
Senp7	A	G	16: 55,996,249 (GRCm39)	E776G	probably damaging	Het
Smc2	A	G	4: 52,449,638 (GRCm39)	I207V	probably benign	Het
Spata31e5	A	G	1: 28,817,664 (GRCm39)	F123L	probably benign	Het
Spats2	A	G	15: 99,078,569 (GRCm39)	T211A	probably benign	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Syt11	A	T	3: 88,656,148 (GRCm39)	M1K	probably null	Het
Tacc2	A	G	7: 130,225,585 (GRCm39)	T757A	possibly damaging	Het
Tecta	A	C	9: 42,256,789 (GRCm39)	M1629R	probably benign	Het
Ufsp2	T	A	8: 46,437,137 (GRCm39)	I101N	probably damaging	Het
Unc13b	T	A	4: 43,235,368 (GRCm39)	C892S	probably damaging	Het
Ush1c	A	G	7: 45,874,361 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,208,381 (GRCm39)	V167E	probably benign	Het
Wdfy4	A	G	14: 32,862,608 (GRCm39)	L588P	probably damaging	Het
Zfyve1	T	C	12: 83,621,595 (GRCm39)	T267A	probably damaging	Het

Other mutations in Or8c16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Or8c16	APN	9	38,131,039 (GRCm39)	missense	probably benign	0.18
IGL01772:Or8c16	APN	9	38,130,905 (GRCm39)	missense	probably damaging	0.97
IGL02253:Or8c16	APN	9	38,131,031 (GRCm39)	missense	probably benign	0.01
IGL02279:Or8c16	APN	9	38,130,389 (GRCm39)	missense	probably benign	0.00
IGL03163:Or8c16	APN	9	38,130,710 (GRCm39)	missense	probably benign	0.00
R0417:Or8c16	UTSW	9	38,130,751 (GRCm39)	missense	probably benign	0.01
R0458:Or8c16	UTSW	9	38,130,344 (GRCm39)	missense	probably damaging	0.97
R1498:Or8c16	UTSW	9	38,130,676 (GRCm39)	missense	probably damaging	1.00
R1765:Or8c16	UTSW	9	38,130,548 (GRCm39)	missense	probably benign	0.01
R2020:Or8c16	UTSW	9	38,130,728 (GRCm39)	missense	possibly damaging	0.47
R2282:Or8c16	UTSW	9	38,130,124 (GRCm39)	missense	probably benign	0.01
R3928:Or8c16	UTSW	9	38,130,131 (GRCm39)	start codon destroyed	probably null	0.63
R4716:Or8c16	UTSW	9	38,130,714 (GRCm39)	missense	probably damaging	0.99
R4911:Or8c16	UTSW	9	38,130,392 (GRCm39)	missense	probably damaging	0.99
R5148:Or8c16	UTSW	9	38,130,317 (GRCm39)	missense	probably benign	0.01
R7677:Or8c16	UTSW	9	38,130,324 (GRCm39)	missense	probably damaging	1.00
R7971:Or8c16	UTSW	9	38,130,843 (GRCm39)	missense	probably benign	0.00
R8219:Or8c16	UTSW	9	38,130,668 (GRCm39)	missense	probably damaging	0.98
R8754:Or8c16	UTSW	9	38,130,865 (GRCm39)	missense	possibly damaging	0.56
R9248:Or8c16	UTSW	9	38,130,706 (GRCm39)	missense	probably benign	0.04
R9256:Or8c16	UTSW	9	38,130,498 (GRCm39)	nonsense	probably null
R9352:Or8c16	UTSW	9	38,130,683 (GRCm39)	missense	probably damaging	1.00
R9593:Or8c16	UTSW	9	38,130,868 (GRCm39)	missense	probably benign	0.20
X0050:Or8c16	UTSW	9	38,130,446 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02